Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71476633C= , CM000673.2:g.71476633C= | GRCh38 |
| NC_000011.9:g.71187679C= , CM000673.1:g.71187679C= | GRCh37 |
| NC_000011.8:g.70865327C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319023.7:c.799-1762C= MANE Select | ENSP00000326424.2:n.799-1762C= | |
| ENST00000527852.6:c.133-712C= | ENSP00000431515.2:n.133-712C= | |
| ENST00000319023.6:c.799-1762C= | ENSP00000326424.2:n.799-1762C= | |
| ENST00000525200.5:c.1299C= | ||
| ENST00000528509.5:c.*1442C= | ENSP00000433472.1:n.*1442C= | |
| ENST00000530534.1:n.157-1762C= | ||
| NM_018161.4:c.799-1762C= | NP_060631.2:n.799-1762C= | |
| NM_018161.5:c.799-1762C= MANE Select | NP_060631.2:n.799-1762C= |